Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | ACOX2 CL E G H | 8309 | 120 | OMIM:617308 | Bile acid synthesis defect, congenital, 6 | . | | | 2 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | FGF23 CL E G H | 8074 | 3680 | ORPHA:89937 | Autosomal dominant hypophosphatemic rickets | HP:0040282 - Frequent | | | 51 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040283 - Occasional | | | 351 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | RPL11 CL E G H | 6135 | 10301 | OMIM:612562 | Diamond-Blackfan anemia 7 | . | | | 22 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | RPS10 CL E G H | 6204 | 10383 | OMIM:613308 | Diamond-Blackfan anemia 9 | . | | | 26 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | SLC10A1 CL E G H | 6554 | 10905 | OMIM:619256 | HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2 | | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040282 - Frequent | | | 110 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | SLC51B CL E G H | 123264 | 29956 | OMIM:619481 | BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2 | | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0100512 | HP:0100512 | Low levels of vitamin D | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |